A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes.

Autor: Kouhashi M; From the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan., Yukawa K; From the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan., Yano N; From the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan., Hagemeijer MC; From the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan., Hirata S; From the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan., Kambe D; From the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan., Yokoyama A; From the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan., Yoshida A; From the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan., Kora K; From the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan., de Ronde CJ; From the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan., Vrieswijk S; From the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan., van der Meijden E; From the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan., Yoshida T; From the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan., Yamashita H; From the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan.

Publikováno v: Neurology. Genetics [Neurol Genet] 2024 May 29; Vol. 10 (3), pp. e200161. Date of Electronic Publication: 2024 May 29 (Print Publication: 2024).

FDA-approved drug screening in patient-derived organoids demonstrates potential of drug repurposing for rare cystic fibrosis genotypes.

Autor: de Poel E; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, EA 3584, the Netherlands; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, CT 3584, the Netherlands., Spelier S; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, EA 3584, the Netherlands; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, CT 3584, the Netherlands., Hagemeijer MC; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, EA 3584, the Netherlands; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, CT 3584, the Netherlands; Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, GD 3015, the Netherlands., van Mourik P; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, EA 3584, the Netherlands., Suen SWF; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, EA 3584, the Netherlands; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, CT 3584, the Netherlands., Vonk AM; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, EA 3584, the Netherlands; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, CT 3584, the Netherlands., Brunsveld JE; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, EA 3584, the Netherlands; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, CT 3584, the Netherlands., Ithakisiou GN; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, EA 3584, the Netherlands; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, CT 3584, the Netherlands., Kruisselbrink E; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, EA 3584, the Netherlands; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, CT 3584, the Netherlands., Oppelaar H; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, EA 3584, the Netherlands; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, CT 3584, the Netherlands., Berkers G; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, EA 3584, the Netherlands., de Winter de Groot KM; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, EA 3584, the Netherlands., Heida-Michel S; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, EA 3584, the Netherlands., Jans SR; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, EA 3584, the Netherlands., van Panhuis H; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, EA 3584, the Netherlands., Bakker M; Department of Pulmonology, Erasmus MC, University Medical Center, Rotterdam, GD 3015, the Netherlands., van der Meer R; Haga Teaching Hospital, The Hague, CH 2545, the Netherlands., Roukema J; Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, XZ 6525, the Netherlands., Dompeling E; Maastricht University Medical Center, Maastricht, HX 6229, the Netherlands., Weersink EJM; Amsterdam University Medical Center, location AMC, Amsterdam, AZ 1105, the Netherlands., Koppelman GH; University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Department of Pediatric Pulmonology and Pediatric Allergology, Groningen, the Netherlands; University of Groningen, University Medical Center Groningen, Groningen Research Institute for Asthma and COPD (GRIAC), Groningen, the Netherlands., Blaazer AR; Division of Medicinal Chemistry, Vrije Universiteit Amsterdam, Amsterdam, HZ 1081, the Netherlands., Muijlwijk-Koezen JE; Division of Medicinal Chemistry, Vrije Universiteit Amsterdam, Amsterdam, HZ 1081, the Netherlands., van der Ent CK; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, EA 3584, the Netherlands., Beekman JM; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, EA 3584, the Netherlands; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, CT 3584, the Netherlands; Centre for Living Technologies, Alliance TU/e, WUR, UU, UMC Utrecht, Princetonlaan 6, Utrecht, CB 3584, the Netherlands. Electronic address: J.Beekman@umcutrecht.nl.

Publikováno v: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2023 May; Vol. 22 (3), pp. 548-559. Date of Electronic Publication: 2023 May 03.

High-throughput functional assay in cystic fibrosis patient-derived organoids allows drug repurposing.

Autor: Spelier S; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, The Netherlands.; These authors contributed equally to this work., de Poel E; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, The Netherlands.; These authors contributed equally to this work., Ithakisiou GN; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, The Netherlands., Suen SWF; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, The Netherlands., Hagemeijer MC; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, The Netherlands.; Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics Erasmus University Medical Center, Rotterdam, The Netherlands., Muilwijk D; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands., Vonk AM; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, The Netherlands., Brunsveld JE; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, The Netherlands., Kruisselbrink E; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, The Netherlands., van der Ent CK; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands., Beekman JM; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, The Netherlands.

Publikováno v: ERJ open research [ERJ Open Res] 2023 Jan 30; Vol. 9 (1). Date of Electronic Publication: 2023 Jan 30 (Print Publication: 2023).

Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.

Autor: Muilwijk D; Dept of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands.; These authors contributed equally to this work., de Poel E; Dept of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, The Netherlands.; These authors contributed equally to this work., van Mourik P; Dept of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands., Suen SWF; Dept of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, The Netherlands., Vonk AM; Dept of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, The Netherlands., Brunsveld JE; Dept of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, The Netherlands., Kruisselbrink E; Dept of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, The Netherlands., Oppelaar H; Dept of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, The Netherlands., Hagemeijer MC; Dept of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, The Netherlands.; Center for Lysosomal and Metabolic Diseases, Dept of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Berkers G; Dept of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands., de Winter-de Groot KM; Dept of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands., Heida-Michel S; Dept of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands., Jans SR; Dept of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands., van Panhuis H; Dept of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands., van der Eerden MM; Dept of Pulmonology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., van der Meer R; Haga Teaching Hospital, The Hague, The Netherlands., Roukema J; Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands., Dompeling E; Maastricht University Medical Center, Maastricht, The Netherlands., Weersink EJM; Amsterdam University Medical Center, location AMC, Amsterdam, The Netherlands., Koppelman GH; University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Department of Pediatric Pulmonology and Pediatric Allergology, Groningen, The Netherlands.; University of Groningen, University Medical Center Groningen, Groningen Research Institute for Asthma and COPD (GRIAC), Groningen, The Netherlands., Vries R; Hubrecht Organoid Technology (HUB), Utrecht, The Netherlands., Zomer-van Ommen DD; Dutch Cystic Fibrosis Foundation (NCFS), Baarn, The Netherlands., Eijkemans MJC; Dept of Data Science and Biostatistics, Julius Center for Health Sciences and Primary Care, University Medical Center, Utrecht University, Utrecht, The Netherlands., van der Ent CK; Dept of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands.; C.K. van der Ent and J.M. Beekman contributed equally to this article as lead authors and supervised the work., Beekman JM; Dept of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, Utrecht, The Netherlands J.Beekman@umcutrecht.nl.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, Utrecht, The Netherlands.; Center for Living Technologies, University Medical Center, Utrecht, The Netherlands.; C.K. van der Ent and J.M. Beekman contributed equally to this article as lead authors and supervised the work.

Publikováno v: The European respiratory journal [Eur Respir J] 2022 Aug 18; Vol. 60 (2). Date of Electronic Publication: 2022 Aug 18 (Print Publication: 2022).

An open-source high-content analysis workflow for CFTR function measurements using the forskolin-induced swelling assay.

Autor: Hagemeijer MC; Department of Pediatric Pulmonology, Wilhelmina Children's Hospital, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands.; Regenerative Medicine Center Utrecht, University Medical Centre Utrecht, 3584 EA Utrecht, The Netherlands., Vonk AM; Department of Pediatric Pulmonology, Wilhelmina Children's Hospital, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands.; Regenerative Medicine Center Utrecht, University Medical Centre Utrecht, 3584 EA Utrecht, The Netherlands., Awatade NT; BioISI - Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, 1749-016 Lisboa, Portugal., Silva IAL; BioISI - Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, 1749-016 Lisboa, Portugal., Tischer C; European Molecular Biology Laboratory (EMBL), Centre for Bioimage Analysis (CBA), 69117 Heidelberg, Germany., Hilsenstein V; European Molecular Biology Laboratory (EMBL), Advanced Light Microscopy Facility (ALMF), 69117 Heidelberg, Germany., Beekman JM; Department of Pediatric Pulmonology, Wilhelmina Children's Hospital, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands.; Regenerative Medicine Center Utrecht, University Medical Centre Utrecht, 3584 EA Utrecht, The Netherlands., Amaral MD; BioISI - Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, 1749-016 Lisboa, Portugal., Botelho HM; BioISI - Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, 1749-016 Lisboa, Portugal.

Publikováno v: Bioinformatics (Oxford, England) [Bioinformatics] 2021 Apr 05; Vol. 36 (24), pp. 5686-5694.